Aarskog Syndrome

Definition

Aarskog syndrome is a rare genetic disorder. It causes short stature and specific facial, limb, and genital features.

Causes

Aarskog syndrome is an inherited disorder. It is caused by a gene mutation in the faciogenital dysplasia 1 gene (FDG1) on the X chromosome. It is passed from mothers to male children. Female children can be affected by a milder form of the disease.

Risk Factors

Those at risk of inheriting Aarskog syndrome are male children of mothers who carry the gene for it.

Diagnosis

The doctor will ask about your symptoms and medical history. A physical exam will be done. The diagnosis of Aarskog syndrome is usually based on facial characteristics. It can be confirmed with genetic tests. X-rays of the face and skull can also be used to help make a diagnosis.

Treatment

There is no known cure for Aarskog syndrome. Treatment is limited to surgical procedures to treat conditions caused by the disorder and supportive treatment. Orthodontic treatment is often needed.Treatment may include:

Surgery

Conditions that may be treated with surgery include:

Inguinal hernia

Cleft lip or palate

Undescended testicles

Orthodontics

In some cases, orthodontic treatment may help certain facial and dental abnormalities.

Supportive Treatment

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Prevention

There is no known way to prevent Aarskog syndrome. If you have Aarskog syndrome or have a family history of the disorder, you can talk with a genetic counselor when deciding to have children.Researchers have located abnormalities in the FGD1 gene in people with this syndrome. Genetic testing for mutations in this gene is available.

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

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This content is reviewed regularly and is updated when new and relevant evidence is made available.
This information is neither intended nor implied to be a substitute for professional medical advice.
Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

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